Canonical Allele Identifier: CA916083682

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 844937
• ClinVar RCV Id: RCV001047909
• dbSNP Id: rs2024205685
• gnomAD v3: 19-12665361-CA-C
• gnomAD v4: 19-12665361-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665363del , CM000681.2:g.12665363del	GRCh38
NC_000019.9:g.12776177del , CM000681.1:g.12776177del	GRCh37
NC_000019.8:g.12637177del	NCBI36
NG_008318.1:g.6416del
NG_015814.1:g.3560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.426del MANE Select	ENSP00000395473.2:p.Val143CysfsTer14
ENST00000221363.8:c.426del	ENSP00000221363.4:p.Val143CysfsTer14
ENST00000456935.6:c.426del	ENSP00000395473.2:p.Val143CysfsTer14
ENST00000466794.5:n.408del
ENST00000486847.2:c.323del	ENSP00000470174.1:p.Leu108CysfsTer?
ENST00000596512.5:n.364del
ENST00000597961.1:c.417del	ENSP00000472710.1:p.Val140CysfsTer14
ENST00000598876.1:c.453del	ENSP00000470533.1:p.Val152CysfsTer14
ENST00000600281.1:n.467del
NM_000528.3:c.426del	NP_000519.2:p.Val143CysfsTer14
NM_001173498.1:c.426del	NP_001166969.1:p.Val143CysfsTer14
XM_005259913.1:c.426del	XP_005259970.1:p.Val143CysfsTer14
XM_005259913.2:c.426del	XP_005259970.1:p.Val143CysfsTer14
XM_024451518.1:c.-593del	XP_024307286.1:n.-593del
NM_000528.4:c.426del MANE Select	NP_000519.2:p.Val143CysfsTer14
NM_001173498.2:c.426del	NP_001166969.1:p.Val143CysfsTer14